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Rabbit Anti-FER1L5 antibody
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.
Function:
FER1L5 belongs to the ferlin family. There are three isoforms generated by alternative splicing.
Subunit:
Interacts (via second C2 domain) with EHD1 and EHD2 (By similarity).
Subcellular Location:
Cell Membrane; single pass membrane protein
Similarity:
Belongs to the ferlin family.
Contains 6 C2 domains.
SWISS:
A0AVI2
Gene ID:
90342
Database links:
Entrez Gene: 90342 Human
SwissProt: A0AVI2 Human
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