C3orf52

C3orf52
Identifiers
AliasesC3orf52, TTMP, chromosome 3 open reading frame 52
External IDsOMIM: 611956; MGI: 2384848; HomoloGene: 11622; GeneCards: C3orf52; OMA:C3orf52 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

79669

212998

Ensembl

ENSG00000114529
ENSG00000285394

ENSMUSG00000033187

UniProt

Q5BVD1

Q8C5C9

RefSeq (mRNA)

NM_001171747
NM_024616

NM_145389

RefSeq (protein)

NP_001165218
NP_078892

NP_663364

Location (UCSC)Chr 3: 112.09 – 112.13 MbChr 16: 45.45 – 45.47 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Chromosome 3 open reading frame 5 (C3orf52), also known as TTMP or TPA-Induced Transmembrane Protein (accession: NP_078892), is an uncharacterized protein encoded in humans by the C3orf52 gene. C3orf52 (accession: NM_024616) is located on the plus strand of chromosome 3, at gene locus q.13.2 and spans approximately 31,822 base pairs. C3orf52 encodes a transmembrane protein whose predicted function is to act as a membrane -associated regulatory factor in epithelial tissues. Structural features within the protein, including a conserved transmembrane domain, a SEA domain, and extensive glycosylation, suggest a role in protein-protein interactions. Evidence supports that C3orf52 acts as a cofactor for LIPH, facilitating localized lysophosphatidic acid production required for hair follicle morphogenesis. Loss of C3orf52 disrupts this lipid signaling pathway, resulting in autosomal recessive hypotrichosis.