InnateDB Protein
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IDBP-367860.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FAM126A
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Protein Name
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family with sequence similarity 126, member A
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000403396
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InnateDB Gene
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IDBG-9521 (FAM126A)
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Protein Structure
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Function |
May have a role in the beta-catenin/Lef signaling pathway. May have a role in the process of myelination of the central and peripheral nervous system. {ECO:0000269PubMed:16951682}.
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Subcellular Localization |
Cytoplasm. Membrane. Note=According to PubMed:10910037, it is mainly cytoplasmic while according to PubMed:16951682, it is a membrane protein.
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Disease Associations |
Leukodystrophy, hypomyelinating, 5 (HLD5) [MIM:610532]: A hypomyelinating leukodystrophy associated with congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5 shows clinical variability, but features of hypomyelination combined with increased periventricular white matter water content are consistently observed. {ECO:0000269PubMed:16951682, ECO:0000269PubMed:21911699}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed. Highest levels in heart, brain, placenta, spleen and testis. {ECO:0000269PubMed:10910037}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
Accession |
GO Term |
GO:0004871
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signal transducer activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR018619
Hyccin
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PFAM |
PF09790
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BYI3
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PhosphoSite |
PhosphoSite-Q9BYI3
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TrEMBL |
A0A024RA06
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UniProt Splice Variant |
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Entrez Gene |
84668
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UniGene |
Hs.85603
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RefSeq |
NP_115970
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HUGO |
HGNC:24587
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OMIM |
610531
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CCDS |
CCDS5377
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HPRD |
16837
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IMGT |
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EMBL |
AB030241
AC005682
AC006039
AK054887
AK056319
BC018710
BX640757
CH236948
CH471073
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GenPept |
AAH18710
AAS01991
AAS07519
BAB39849
BAB70823
BAB71148
CAE45864
EAL24262
EAW93767
EAW93768
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