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Gene

HYCC1

hyccin PI4KA lipid kinase complex subunit 1

Summary

Cytogenetic location
7p15.3
Coordinates
Chromosome 7: 22,934,211–23,014,130 (GRCh38)
Exons
11 exons across 79.9 kb
Protein
521 amino acids
Inheritance
Autosomal recessive
Also known as
DRCTNNB1A, HCC, hyccin
Previous symbols
FAM126A
MANE Select transcript
ENST00000432176.7NM_032581.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Pelizaeus-Merzbacher Disease & Hypomyelinating Leukodystrophies

    • Hypomyelinating leukodystrophy 5 (HYCC1)Autosomal recessive

      A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

Broader groupings

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How HYCC1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where HYCC1 sits. HYCC1 and 8 genes near it on chromosome 7, from 22,474,171 to 23,474,170.Chromosome 77p15.3p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.322.6 Mb22.8 Mb23 Mb23.2 Mb23.4 MbSTEAP1B: 22,416,932–22,727,789, reverse strandSTEAP1BIL6: 22,725,884–22,732,002, forward strandIL6TOMM7: 22,812,628–22,822,891, reverse strandTOMM7HYCC1: 22,934,211–23,014,130, reverse strandHYCC1KLHL7: 23,105,729–23,177,914, forward strandKLHL7NUP42: 23,181,804–23,201,011, forward strandNUP42GPNMB: 23,235,967–23,275,111, forward strandGPNMBMALSU1: 23,298,739–23,311,729, forward strandMALSU1IGF2BP3: 23,308,571–23,470,833, reverse strandIGF2BP3Diagram of HYCC1: 11 exons on the reverse strand of chromosome 7Exon 11: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 8: 3 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 3: 4 known disease-causing sitesExon 11: 22,934,211–22,946,163, 11,953 basesExon 10: 22,960,256–22,960,415, 160 basesExon 9: 22,961,235–22,961,322, 88 basesExon 8: 22,964,415–22,964,531, 117 basesExon 7: 22,976,210–22,976,305, 96 basesExon 6: 22,976,693–22,976,808, 116 basesExon 5: 22,977,341–22,977,421, 81 basesExon 4: 22,978,269–22,978,448, 180 basesExon 3: 22,983,944–22,984,045, 102 basesExon 2: 22,991,061–22,991,139, 79 basesExon 1: 23,013,925–23,014,130, 206 bases1110864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 13.2 kb of the gene's 79.9 kb; 1,566 of those bases code for the protein.

How a genome test reads HYCC1

16

positions in HYCC1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 79.9 kb of HYCC1, introns included, not only the 13.2 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). HYCC1 gene: hyccin PI4KA lipid kinase complex subunit 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/hycc1

Vancouver

Dante Labs. HYCC1 gene: hyccin PI4KA lipid kinase complex subunit 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hycc1

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