| Gene Symbol |
FA2H
|
| Entrez Gene |
79152
|
| Alt Symbol |
FAAH, FAH1, FAXDC1, SCS7, SPG35
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
fatty acid 2-hydroxylase
|
| Other Description |
fatty acid alpha-hydroxylase|fatty acid hydroxylase domain containing 1|spastic paraplegia 35 (autosomal recessive)
|
| Swissprots |
O75213 Q9H1A5 B7Z8T6 Q96DK1 Q7L5A8
|
| Accessions |
AAC23496 EAW95677 EAW95678 Q7L5A8 AA857184 AJ278219 CAC20436 AK058016 BAB71632 AK303878 BAH14072 AK315512 BAG37893 BC002679 AAH02679 BC004263 AAH04263 BC010453 BC017049 AAH17049 DA890369 XM_011523317 XP_011521619 XM_011523318 XP_011521620 XM_011523319 XP_011521621 NM_024306 NP_077282
|
| Function |
Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids. {ECO:0000269|PubMed:15337768, ECO:0000269|PubMed:17355976}.
|
| Subcellular Location |
Endoplasmic reticulum membrane {ECO:0000269|PubMed:15337768}; Multi-pass membrane protein {ECO:0000269|PubMed:15337768}. Microsome membrane {ECO:0000269|PubMed:15337768}; Multi-pass membrane protein {ECO:0000269|PubMed:15337768}.
|
| Tissue Specificity |
Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes. Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and kidney. {ECO:0000269|PubMed:15337768, ECO:0000269|PubMed:17355976}.
|