{
  "url": "https://dantelabs.com/ko/genes/mmp21",
  "gene": {
    "slug": "mmp21",
    "symbol": "MMP21",
    "name": "matrix metallopeptidase 21",
    "hgnc": "HGNC:14357",
    "summary": null,
    "location": "10q26.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000154485",
    "entrezId": 118856,
    "omim": [
      "608416"
    ],
    "uniprot": [
      "Q8N119"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 125766453,
      "end": 125775821,
      "strand": "-",
      "ensemblTranscript": "ENST00000368808.3",
      "refseqTranscript": "NM_147191.1",
      "ensemblProtein": "ENSP00000357798.3",
      "refseqProtein": "NP_671724.1",
      "exons": [
        {
          "start": 125766453,
          "end": 125766961
        },
        {
          "start": 125767532,
          "end": 125767704
        },
        {
          "start": 125770334,
          "end": 125770591
        },
        {
          "start": 125772218,
          "end": 125772359
        },
        {
          "start": 125772611,
          "end": 125772750
        },
        {
          "start": 125773831,
          "end": 125774365
        },
        {
          "start": 125775660,
          "end": 125775821
        }
      ],
      "cds": {
        "start": 125766662,
        "end": 125775821
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 127455022,
      "end": 127464390,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 125271137,
      "end": 126271136,
      "genes": [
        {
          "symbol": "TEX36",
          "ensemblId": "ENSG00000175018",
          "biotype": "protein_coding",
          "start": 125576522,
          "end": 125683163,
          "strand": "-",
          "slug": "tex36"
        },
        {
          "symbol": "EDRF1",
          "ensemblId": "ENSG00000107938",
          "biotype": "protein_coding",
          "start": 125719515,
          "end": 125764232,
          "strand": "+",
          "slug": "edrf1"
        },
        {
          "symbol": "UROS",
          "ensemblId": "ENSG00000188690",
          "biotype": "protein_coding",
          "start": 125784980,
          "end": 125823288,
          "strand": "-",
          "slug": "uros"
        },
        {
          "symbol": "BCCIP",
          "ensemblId": "ENSG00000107949",
          "biotype": "protein_coding",
          "start": 125823523,
          "end": 125854471,
          "strand": "+",
          "slug": "bccip"
        },
        {
          "symbol": "DHX32",
          "ensemblId": "ENSG00000089876",
          "biotype": "protein_coding",
          "start": 125836334,
          "end": 125896514,
          "strand": "-",
          "slug": "dhx32"
        },
        {
          "symbol": "FANK1",
          "ensemblId": "ENSG00000203780",
          "biotype": "protein_coding",
          "start": 125896525,
          "end": 126009595,
          "strand": "+",
          "slug": "fank1"
        },
        {
          "symbol": "ADAM12",
          "ensemblId": "ENSG00000148848",
          "biotype": "protein_coding",
          "start": 126012381,
          "end": 126388502,
          "strand": "-",
          "slug": "adam12"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "heterotaxy-laterality-defects",
        "name": "이형성 및 좌우 비대칭 결함",
        "diseases": [
          {
            "mondoId": "MONDO:0018677",
            "name": "내장 이형성증",
            "genes": 11,
            "inheritance": null,
            "description": "ZIC3(X 염색체 연관), NODAL, CFC1, MMP21, PKD1L1 등의 유전자 변이로 인해 내장 기관의 좌우 배열이 비정상적으로 나타나는 질환입니다. 복잡한 심장 기형과 비장 이상이 함께 나타나는 경우가 많습니다.",
            "management": "이 질환을 알고 있으면 심장 및 복부 영상 검사를 준비하는 데 도움이 되며, 비장이 없는 경우 감염 예방 조치와 생식 관련 상담을 받는 데에도 도움이 됩니다.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/heterotaxy-laterality-defects"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-aortic-valve-morphology",
        "name": "Abnormal aortic valve morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-aortic-valve-morphology"
      },
      {
        "slug": "abnormal-cardiac-septum-morphology",
        "name": "Abnormal cardiac septum morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-cardiac-septum-morphology"
      },
      {
        "slug": "abnormal-tricuspid-valve-morphology",
        "name": "Abnormal tricuspid valve morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-tricuspid-valve-morphology"
      },
      {
        "slug": "situs-inversus-totalis",
        "name": "All organs on wrong side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/situs-inversus-totalis"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "cyanosis",
        "name": "Blue discoloration of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/cyanosis"
      },
      {
        "slug": "common-atrium",
        "name": "Common atrium",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/common-atrium"
      },
      {
        "slug": "dextrocardia",
        "name": "Heart tip and four chambers point towards right side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dextrocardia"
      },
      {
        "slug": "heterotaxy",
        "name": "Heterotaxy",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/heterotaxy"
      },
      {
        "slug": "atrioventricular-canal-defect",
        "name": "Hole in center of heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/atrioventricular-canal-defect"
      },
      {
        "slug": "interrupted-aortic-arch",
        "name": "Interrupted aortic arch",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/interrupted-aortic-arch"
      },
      {
        "slug": "interrupted-inferior-vena-cava-with-azygous-continuation",
        "name": "Interrupted inferior vena cava with azygous continuation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/interrupted-inferior-vena-cava-with-azygous-continuation"
      },
      {
        "slug": "intestinal-malrotation",
        "name": "Intestinal malrotation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/intestinal-malrotation"
      },
      {
        "slug": "mitral-atresia",
        "name": "Mitral atresia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mitral-atresia"
      },
      {
        "slug": "polysplenia",
        "name": "Multiple small spleens",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/polysplenia"
      },
      {
        "slug": "pulmonary-artery-atresia",
        "name": "Pulmonary artery atresia",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pulmonary-artery-atresia"
      },
      {
        "slug": "right-aortic-arch",
        "name": "Right aortic arch",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/right-aortic-arch"
      },
      {
        "slug": "hypoplasia-of-right-ventricle",
        "name": "Small right heart chamber",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-right-ventricle"
      },
      {
        "slug": "total-anomalous-pulmonary-venous-return",
        "name": "Total anomalous pulmonary venous return",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/total-anomalous-pulmonary-venous-return"
      },
      {
        "slug": "transposition-of-the-great-arteries",
        "name": "Transposition of the great arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/transposition-of-the-great-arteries"
      },
      {
        "slug": "pulmonary-artery-hypoplasia",
        "name": "Underdeveloped lung artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-artery-hypoplasia"
      }
    ],
    "related": [
      {
        "slug": "acvr2b",
        "symbol": "ACVR2B",
        "name": "activin A receptor type 2B",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/acvr2b"
      },
      {
        "slug": "cfap53",
        "symbol": "CFAP53",
        "name": "cilia and flagella associated protein 53",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/cfap53"
      },
      {
        "slug": "cfc1",
        "symbol": "CFC1",
        "name": "cryptic, EGF-CFC family member 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/cfc1"
      },
      {
        "slug": "cirop",
        "symbol": "CIROP",
        "name": "ciliated left-right organizer metallopeptidase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/cirop"
      },
      {
        "slug": "daw1",
        "symbol": "DAW1",
        "name": "dynein assembly factor with WD repeats 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/daw1"
      },
      {
        "slug": "gdf1",
        "symbol": "GDF1",
        "name": "growth differentiation factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/gdf1"
      },
      {
        "slug": "mns1",
        "symbol": "MNS1",
        "name": "meiosis specific nuclear structural 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/mns1"
      },
      {
        "slug": "nodal",
        "symbol": "NODAL",
        "name": "nodal growth differentiation factor",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/nodal"
      },
      {
        "slug": "pkd1l1",
        "symbol": "PKD1L1",
        "name": "polycystin 1 like 1, transient receptor potential channel interacting",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/pkd1l1"
      },
      {
        "slug": "zic3",
        "symbol": "ZIC3",
        "name": "Zic family zinc finger 3",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/zic3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}