1. Gene
  2. STARD6 - StAR related lipid transfer domain containing 6 Gene

STARD6 - StAR related lipid transfer domain containing 6 Gene

中文名称:含 StAR 相关脂质转移结构域 6

种属: Homo sapiens

基因 ID: 147323 | 基因类型: protein coding

关于 STARD6

Cytogenetic location: 18q21.2 Genomic coordinates (GRCh38): 18:54,324,492-54,357,858 (from NCBI)

This gene has 6 transcripts (splice variants), 114 orthologues and 5 paralogues. Restricted expression toward testis (RPKM 7.1).

功能概要

胆固醇稳态至少部分受甾醇调节元件 (SRE) 结合蛋白 (例如 SREBP1;MIM 184756) 和肝脏 X 受体 (例如 LXRA;MIM 602423) 的调节。甾醇耗尽后,LXR 失活并且 SREBP 被切割,之后它们结合启动子 SRE 并激活参与胆固醇生物合成和摄取的基因。甾醇转运由囊泡或可溶性蛋白载体介导,例如类固醇生成急性调节蛋白 (STAR; MIM 600617) 。 STAR 与包含 200 至 210 个氨基酸的 STAR 相关脂质转移 (START) 结构域的蛋白质家族同源,包括 STARD6 (Soccio 等人,2002 [PubMed 12011452]) 。[OMIM 提供,2008 年 3 月]

Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in Cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]

STARD6 基因产物(4)

mRNA Protein Name
NM_001371101.1 NP_001358030.1 stAR-related lipid transfer protein 6 isoform 2
NM_001371102.1 NP_001358031.1 stAR-related lipid transfer protein 6 isoform 2
NM_001394379.1 NP_001381308.1 stAR-related lipid transfer protein 6 isoform 3
NM_139171.2 NP_631910.1 stAR-related lipid transfer protein 6 isoform 1

STARD6 蛋白结构

START

START: START domain (13 - 196)

  • 0
  • 100
  • 200
  • 220 a.a.
蛋白主名 其他名称

stAR-related lipid transfer protein 6

START domain containing 6

关联疾病

疾病名称 别名
Blount'S Disease

Blount Disease

Tibia Vara

Osteochondrosis Deformans Tibiae

Osteochondrosis Deformans Tibiae, Familial Infantile Type

Familial Infantile Type Osteochondrosis Deformans Tibiae

Blount-Barber Syndrome

Erlacher-Blount Syndrome

Infantile Tibia Vara

Tibia Vara Blount

Blount Disease, Infantile

Vertigo, Benign Recurrent

Benign Paroxysmal Positional Vertigo

Bppv

Vestibulopathy, Familial

BRV

Vertigo, Benign Paroxysmal Positional

Benign Paroxysmal Positional Nystagmus

Benign Recurrent Vertigo

Familial Benign Recurrent Vertigo

Familial Vestibulopathy

Benign Paroxysmal Nystagmus

Bppv - [Benign Positional Paroxysmal Vertigo]

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

Congenital Lipoid Adrenal Hyperplasia

Lipoid Cah

Lipoid Adrenal Hyperplasia

Adrenal Hyperplasia 1

Cah

Clah

LCAH

Adrenal Hyperplasia I

Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

Congenital Adrenal Hyperplasia Lipoid

Adrenal Hyperplasia, Congenital

Congenital Adrenal Hyperplasia, Lipoid

AH1

Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

Adrenal Hyperplasia Congenital

Hyperplasia, Adrenal, Lipoid, Congenital

Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

Congenital Adrenal Cortical Hyperplasia

Congenital Adrenal Gland Hyperplasia

Congenital Adrenogenital Syndrome

Congenital Hyperadrenocorticism

Congenital Adrenogenitalism

Congenital Female Adrenal Pseudohermaphroditism

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta STARD6 VGNC VGNC:77950
Felis catus STARD6 VGNC VGNC:65756
Mus musculus STARD6 MGD MGI:2156774
Canis familiaris STARD6 VGNC VGNC:46886
Bos taurus STARD6 VGNC VGNC:35367
Rattus norvegicus STARD6 RGD RGD:1359639