Human Gene FA2H (ENST00000219368.8) from GENCODE V44
Description: Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA. (from RefSeq NM_024306) RefSeq Summary (NM_024306): This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]. Gencode Transcript: ENST00000219368.8 Gencode Gene: ENSG00000103089.9 Transcript (Including UTRs) Position: hg38 chr16:74,712,969-74,774,820 Size: 61,852 Total Exon Count: 7 Strand: - Coding Region Position: hg38 chr16:74,714,190-74,774,755 Size: 60,566 Coding Exon Count: 7
ID:FA2H_HUMAN DESCRIPTION: RecName: Full=Fatty acid 2-hydroxylase; EC=1.-.-.-; AltName: Full=Fatty acid alpha-hydroxylase; FUNCTION: Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids. COFACTOR: Iron (By similarity). SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Microsome membrane; Multi-pass membrane protein. 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. INDUCTION: Up-regulated during keratinocyte differentiation. DOMAIN: The histidine box domains may contain the active site and/or be involved in metal ion binding. DISEASE: Defects in FA2H are a cause of spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319]. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SIMILARITY: Belongs to the sterol desaturase family. SCS7 subfamily. SIMILARITY: Contains 1 cytochrome b5 heme-binding domain. SEQUENCE CAUTION: Sequence=AAC23496.1; Type=Erroneous gene model prediction;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q7L5A8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
