The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr鰉 syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes. The FAM134A gene product has been provisionally designated FAM134A pending further characterization.
Function:
The function of this protein remains unknown.
Subcellular Location:
Membrane; Multipass membrane protein.
Similarity:
Belongs to the FAM133 family.
SWISS:
Q8NC44
Gene ID:
79137
Database links:
Entrez Gene: 79137 Human
Entrez Gene: 227298 Mouse
Entrez Gene: 363252 Rat
NCBI: NP_077269 Human
SwissProt: Q8NC44 Human
SwissProt: Q6NS82 Mouse
SwissProt: Q3MHU5 Rat
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